Canonical Allele Identifier: CA4341053

Gene: PEX1

Linked Data

• dbSNP Id: rs781653660
• ExAC: 7:92129018 C / T
• gnomAD v2: 7-92129018-C-T
• gnomAD v4: 7-92499704-C-T
• MyVariant Identifiers: chr7:g.92129018C>T (hg19) ; chr7:g.92499704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499704C>T , CM000669.2:g.92499704C>T	GRCh38
NC_000007.13:g.92129018C>T , CM000669.1:g.92129018C>T	GRCh37
NC_000007.12:g.91966954C>T	NCBI36
NG_008341.1:g.33828G>A
NG_008341.2:g.33828G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718G>A MANE Select	ENSP00000248633.4:p.Lys906=
ENST00000248633.8:c.2718G>A	ENSP00000248633.4:p.Lys906=
ENST00000428214.5:c.2547G>A	ENSP00000394413.1:p.Lys849=
ENST00000438045.5:c.1752G>A	ENSP00000410438.1:p.Lys584=
ENST00000484913.5:n.2757G>A
ENST00000496420.5:n.2610G>A
NM_000466.2:c.2718G>A	NP_000457.1:p.Lys906=
NM_001282677.1:c.2547G>A	NP_001269606.1:p.Lys849=
NM_001282678.1:c.2094G>A	NP_001269607.1:p.Lys698=
XM_005250433.3:c.969G>A	XP_005250490.1:p.Lys323=
XR_242246.3:n.2814G>A
XM_017012319.2:c.969G>A	XP_016867808.1:p.Lys323=
XR_001744808.2:n.1745G>A
XR_242246.5:n.2765G>A
NM_000466.3:c.2718G>A MANE Select	NP_000457.1:p.Lys906=
NM_001282677.2:c.2547G>A	NP_001269606.1:p.Lys849=
NM_001282678.2:c.2094G>A	NP_001269607.1:p.Lys698=